Found: 11
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Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13717-w
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- Article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252
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- Article
Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086115
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- Article
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104
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- Article
Cell biological characterization of the Cohen syndrome‐associated protein COH1 (894.1).
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- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.894.1
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- Article
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
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- Human Molecular Genetics, 2016, v. 25, n. 17, p. 3836, doi. 10.1093/hmg/ddw230
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- Article
Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
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- Human Mutation, 2012, v. 33, n. 4, p. 660, doi. 10.1002/humu.22042
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- Article
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. E1851, doi. 10.1002/humu.21362
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- Article
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
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- Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886
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- Article
Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.
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- Cytogenetic & Genome Research, 2019, v. 158, n. 3, p. 126, doi. 10.1159/000500988
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- Article
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 127, doi. 10.1186/s12881-014-0127-0
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- Article